Canonical Allele Identifier: CA2694442780

Gene: COL4A5

Linked Data

• gnomAD v4: X-108681040-G-GAATGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681041_108681042insATGAAA , CM000685.2:g.108681041_108681042insATGAAA	GRCh38
NC_000023.10:g.107924271_107924272insATGAAA , CM000685.1:g.107924271_107924272insATGAAA	GRCh37
NC_000023.9:g.107810927_107810928insATGAAA	NCBI36
NG_011977.1:g.246118_246119insATGAAA
NG_011977.2:g.246118_246119insATGAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4087+85_4087+86insATGAAA MANE Select	ENSP00000331902.7:n.4087+85_4087+86insATGAAA
ENST00000361603.7:c.4069+85_4069+86insATGAAA	ENSP00000354505.2:n.4069+85_4069+86insATGAAA
ENST00000510690.2:n.581+85_581+86insATGAAA
ENST00000328300.10:c.4087+85_4087+86insATGAAA	ENSP00000331902.6:n.4087+85_4087+86insATGAAA
ENST00000361603.6:c.4069+85_4069+86insATGAAA	ENSP00000354505.2:n.4069+85_4069+86insATGAAA
ENST00000489230.1:n.490+85_490+86insATGAAA
NM_000495.4:c.4069+85_4069+86insATGAAA	NP_000486.1:n.4069+85_4069+86insATGAAA
NM_033380.2:c.4087+85_4087+86insATGAAA	NP_203699.1:n.4087+85_4087+86insATGAAA
XM_005262070.2:c.4078+85_4078+86insATGAAA	XP_005262127.1:n.4078+85_4078+86insATGAAA
XM_006724616.2:c.4087+85_4087+86insATGAAA	XP_006724679.1:n.4087+85_4087+86insATGAAA
XM_011530849.1:c.3763+85_3763+86insATGAAA	XP_011529151.1:n.3763+85_3763+86insATGAAA
XM_011530851.1:c.1660+85_1660+86insATGAAA	XP_011529153.1:n.1660+85_1660+86insATGAAA
XM_011530849.2:c.4102+85_4102+86insATGAAA	XP_011529151.2:n.4102+85_4102+86insATGAAA
XM_017029259.2:c.4093+85_4093+86insATGAAA	XP_016884748.1:n.4093+85_4093+86insATGAAA
XM_017029260.1:c.4084+85_4084+86insATGAAA	XP_016884749.1:n.4084+85_4084+86insATGAAA
XM_017029263.2:c.2422+85_2422+86insATGAAA	XP_016884752.1:n.2422+85_2422+86insATGAAA
NM_000495.5:c.4069+85_4069+86insATGAAA	NP_000486.1:n.4069+85_4069+86insATGAAA
NM_033380.3:c.4087+85_4087+86insATGAAA MANE Select	NP_203699.1:n.4087+85_4087+86insATGAAA